Archives of Dermatological Research

, Volume 304, Issue 5, pp 343–351 | Cite as

Association of TGFβ1 and clinical factors with scar outcome following melanoma excision

  • Sarah V. WardEmail author
  • G. Cadby
  • J. S. Heyworth
  • M. W. Fear
  • H. J. Wallace
  • J. M. Cole
  • F. M. Wood
  • L. J. Palmer
Original Paper


All patients with primary cutaneous malignant melanoma undergo surgical excision to remove the tumour, resulting in scar formation. There is marked variation in the aesthetic appearance of scars following surgery but limited knowledge about the genetic factors affecting non-keloid, surgical scar outcomes. This study aimed to investigate the role of known clinical factors and genetic polymorphisms in pigmentation and wound repair genes in non-keloid scar outcome, following melanoma excision. Participants were 202 cases who underwent a standardized scar assessment following surgical melanoma excision and provided a DNA sample. Genetic association analyses between single nucleotide polymorphisms (SNPs) from 24 candidate genes and scar outcome data were performed, controlling for relevant clinical factors. Following adjustment for multiple testing, SNP rs8110090 in TGFβ1 was significantly associated with both the primary scar outcome (a combination score reflecting vascularity, height and pliability, p = 0.0002, q = 0.01) and the secondary scar outcome (a combination score reflecting vascularity, height, pliability and pigmentation, p = 0.0002, q = 0.006). The minor allele G was associated with a poorer scar outcome. Younger age, time elapsed since excision, absence of kidney failure and eczema, presence of thyroid problems and infection were also associated with poorer scar outcome and were adjusted for in the final model, along with scar site. Results from this study suggest that genes involved in wound healing may play a role in determining scar outcome. Associations observed between scar outcome and clinical factors reinforce current clinical knowledge regarding factors affecting scarring. Replication studies in larger samples are warranted and will improve our understanding of the underlying mechanisms of scarring, potentially help to identify patients at risk of poor scar outcomes.


Scar outcome Non-keloid Melanoma TGFβWound repair genes Pigmentation genes 



The authors gratefully acknowledge all participants for their time and contribution, as well as the Western Australian Cancer Registry, the Western Australian DNA Bank (National Health and Medical Research Council Enabling Facility), the Ark at The University of Western Australia, the McComb Foundation staff, the Royal Perth Hospital Medical Imaging Department, all scar examiners, Ms Nicole Warrington, the WAMHS study team and the WAMHS Management Committee. This research was supported by funding from the Scott Kirkbride Melanoma Research Centre and the Australian Government Department of Innovation, Industry, Science and Research (Australian Postgraduate Awards)

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

403_2012_1240_MOESM1_ESM.pdf (98 kb)
Supplementary material 1 (PDF 98 kb)
403_2012_1240_MOESM2_ESM.pdf (48 kb)
Supplementary material 2 (PDF 48 kb)
403_2012_1240_MOESM3_ESM.pdf (48 kb)
Supplementary material 3 (PDF 48 kb)


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Sarah V. Ward
    • 1
    Email author
  • G. Cadby
    • 2
  • J. S. Heyworth
    • 3
  • M. W. Fear
    • 4
    • 5
    • 6
  • H. J. Wallace
    • 4
  • J. M. Cole
    • 7
  • F. M. Wood
    • 4
    • 5
  • L. J. Palmer
    • 2
    • 8
  1. 1.Centre for Genetic Epidemiology and BiostatisticsThe University of Western AustraliaCrawleyAustralia
  2. 2.Samuel Lunenfeld Research InstituteTorontoCanada
  3. 3.School of Population HealthThe University of Western AustraliaCrawleyAustralia
  4. 4.Burn Injury Research UnitThe University of Western AustraliaCrawleyAustralia
  5. 5.McComb FoundationTelstra Burns Reconstruction and Rehabilitation UnitPerthAustralia
  6. 6.School of MedicineUniversity of Notre Dame AustraliaFremantleAustralia
  7. 7.St John of God Dermatology, St John of God Health Care SubiacoSubiacoAustralia
  8. 8.Genetic Epidemiology and Biostatistics PlatformOntario Institute for Cancer Research, MaRS CentreTorontoCanada

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